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Results for "NISCH"

Variant Events: 11

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
NISCH     217-14003-110chr3:
52526404-52526405
CCTAexonicUnknownnonframeshift substitutionNM_007184c.4421_4422TAN/A--Stessman2017 T
NISCH     PN400323chr3:
52524841-52524841
GAexonicUnknownnonsynonymous SNVNM_007184c.G3734Ap.R1245Q32.08.246E-6Leblond2019 E
NISCH     09C98481chr3:
52492846-52492846
CGexonicDe novononsynonymous SNVNM_001276293
NM_001276294
NM_007184
c.C346G
c.C346G
c.C346G
p.H116D
p.H116D
p.H116D
8.95-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
NISCH     14697.p1chr3:
52521539-52521542
AGAGAexonicDe novononframeshift deletionNM_007184c.2032_2034delp.678_678del--Iossifov2014 E
Kosmicki2017 E
NISCH     M08428chr3:
52510539-52510539
CTexonicMaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184
c.C842T
c.C842T
c.C842T
p.A281V
p.A281V
p.A281V
36.0-Guo2018 T
Wang2016 T
NISCH     80001101111chr3:
52518522-52518522
TCintronicDe novo--Satterstrom2020 E
NISCH     AU2004302chr3:
52505847-52505847
GAexonicMaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184
c.G427A
c.G427A
c.G427A
p.A143T
p.A143T
p.A143T
34.0-Stessman2017 T
NISCH     03C16459chr3:
52510496-52510496
GTexonicPaternalstopgainNM_001276293
NM_001276294
NM_007184
c.G799T
c.G799T
c.G799T
p.E267X
p.E267X
p.E267X
36.0-Stessman2017 T
NISCH     2-1358-003chr3:
52491122-52491122
CTintronicDe novo--Yuen2017 G
NISCH     215-13055-0653chr3:
52504917-52504917
GTexonicInheritedstopgainNM_001276293
NM_001276294
NM_007184
c.G403T
c.G403T
c.G403T
p.E135X
p.E135X
p.E135X
36.0-Stessman2017 T
NISCH     GX0217.p1chr3:
52505850-52505850
GAexonicPaternalnonsynonymous SNVNM_001276293
NM_001276294
NM_007184
c.G430A
c.G430A
c.G430A
p.G144S
p.G144S
p.G144S
34.01.661E-5Guo2018 T
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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